Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis

  title={Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis},
  author={Anne Vincent and Dominique Hertz and Christine Petit and Christine Kretz and I. Oberle and Jean-Louis Mandel},
THE fragile-X syndrome is the most frequent inherited form of mental retardation, with an incidence of 1 in 1,500 males. It is characterized by the presence of a fragile site at Xq27.3 induced in vitro by folate deprivation or by inhibitors of deoxynucleotide synthesis1. Its mode of inheritance is unusual for an X-linked trait, with incomplete penetrance in both males and females. Some phenotypically normal males transmit the mutation to all their daughters who rarely express any symptoms, but… CONTINUE READING


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